Canonical Allele Identifier: CA2184873038

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68212015G= , CM000677.2:g.68212015G=	GRCh38
NC_000015.9:g.68504353G= , CM000677.1:g.68504353G=	GRCh37
NC_000015.8:g.66291407G=	NCBI36
NG_008764.2:g.50197C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.298-152C= MANE Select	ENSP00000249806.5:n.298-152C=
ENST00000562767.2:c.84-14387C=	ENSP00000456336.1:n.84-14387C=
ENST00000563917.2:n.140-152C=
ENST00000565471.6:c.84-2256C=	ENSP00000457384.1:n.84-2256C=
ENST00000635747.1:c.*201-152C=	ENSP00000490627.1:n.*201-152C=
ENST00000636212.1:c.298-274C=	ENSP00000489851.1:n.298-274C=
ENST00000636314.1:c.183-697C=	ENSP00000490295.1:n.183-697C=
ENST00000636674.1:n.1129C=
ENST00000636964.1:n.1318C=
ENST00000637054.1:c.198+6521C=	ENSP00000490807.1:n.198+6521C=
ENST00000637223.1:c.*201-697C=	ENSP00000490010.1:n.*201-697C=
ENST00000637329.1:c.209-94C=
ENST00000637450.1:c.183-152C=	ENSP00000490204.1:n.183-152C=
ENST00000637494.1:c.199-697C=	ENSP00000490057.1:n.199-697C=
ENST00000637667.1:c.199-152C=	ENSP00000489843.1:n.199-152C=
ENST00000637823.1:c.224-372C=
ENST00000637888.1:c.198+6521C=	ENSP00000490546.1:n.198+6521C=
ENST00000638076.1:c.298-152C=	ENSP00000490373.1:n.298-152C=
ENST00000638144.1:n.130-697C=
ENST00000646164.1:c.38+6521C=
ENST00000249806.9:c.298-152C=	ENSP00000249806.5:n.298-152C=
ENST00000538696.5:c.394-152C=	ENSP00000445770.1:n.394-152C=
ENST00000562767.1:c.84-14387C=	ENSP00000456336.1:n.84-14387C=
ENST00000563917.1:n.79-152C=
ENST00000564752.1:c.298-152C=	ENSP00000457822.1:n.298-152C=
ENST00000565471.5:c.84-2256C=	ENSP00000457384.1:n.84-2256C=
ENST00000566347.5:c.298-697C=	ENSP00000457783.1:n.298-697C=
ENST00000567060.5:c.297+2275C=	ENSP00000454818.1:n.297+2275C=
NM_017882.2:c.298-152C=	NP_060352.1:n.298-152C=
XR_931861.1:n.401-152C=
NM_017882.3:c.298-152C= MANE Select	NP_060352.1:n.298-152C=